Publications by authors named "Mariko Yagi"

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Improvement in a post-stroke pediatric patient with hemiplegia: Use of a hand-arm bimanual intensive therapy with hybrid assistive limb.
Yoko Matsumoto, Yuji Yoshii, Akiyo Ikutomo, Mariko Yagi, Mio Nishimura

Brain Dev· January 2024

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Natural Course of Pachychoroid Pigment Epitheliopathy.
Mariko Yagi, Masahiro Miyake, Yuki Mori, Yoshikatsu Hosoda, Ayako Takahashi

Ophthalmol Sci· December 2022

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Early clinical signs and treatment of Menkes disease.
Chie Fujisawa, Hiroko Kodama, Yasuhiro Sato, Masakazu Mimaki, Mariko Yagi

Mol Genet Metab Rep· June 2022

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Application of a wearable switch to perform a mouse left click for a child with mix type of cerebral palsy: a single case study.
Akio Yamamoto, Kenji Kihara, Mariko Yagi, Yoko Matsumoto, Shuichi Tsuneishi

Disabil Rehabil Assist Technol· January 2020

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Pericarditis-complicated takotsubo cardiomyopathy in a patient with rheumatoid arthritis.
Kiyoo Mori, Mariko Yagi, Kotaro Oe, Masaya Shimojima, Masakazu Yamagishi

Cardiovasc Diagn Ther· August 2018

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Cholesterol Metabolism Is Enhanced in the Liver and Brain of Children With Citrin Deficiency.
Satoshi Hirayama, Hironori Nagasaka, Akira Honda, Haruki Komatsu, Takahiro Kodama, Mariko Yagi

J Clin Endocrinol Metab· July 2018

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Serum Amino Acid Profiling in Citrin-Deficient Children Exhibiting Normal Liver Function During the Apparently Healthy Period.
Teruo Miyazaki, Hironori Nagasaka, Haruki Komatsu, Ayano Inui, Ichiro Morioka, Mariko Yagi

JIMD Rep· April 2018

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Renal insufficiency mimicking glutaric acidemia type 1 on newborn screening.
Masaaki Matsumoto, Hiroyuki Awano, Ryosuke Bo, Masashi Nagai, Kazumi Tomioka, Mariko Yagi

Pediatr Int· January 2018

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Circulating tricarboxylic acid cycle metabolite levels in citrin-deficient children with metabolic adaptation, with and without sodium pyruvate treatment.
Hironori Nagasaka, Haruki Komatsu, Ayano Inui, Mariko Nakacho, Ichiro Morioka, Mariko Yagi

Mol Genet Metab· March 2017

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2'-O-Methyl RNA/Ethylene-Bridged Nucleic Acid Chimera Antisense Oligonucleotides to Induce Dystrophin Exon 45 Skipping.
Tomoko Lee, Hiroyuki Awano, Mariko Yagi, Masaaki Matsumoto, Nobuaki Watanabe

Genes (Basel)· February 2017

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Reply to the letter: "Neonatal screening for Menkes disease using urine HVA/VMA ratio".
Mariko Yagi, Tomoko Lee, Noriko Kusunoki, Miwako Nagasaka, Tsubasa Koda

Brain Dev· September 2016

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Next-generation sequencing discloses a nonsense mutation in the dystrophin gene from long preserved dried umbilical cord and low-level somatic mosaicism in the proband mother.
Mariko Taniguchi-Ikeda, Yasuhiro Takeshima, Tomoko Lee, Masahiro Nishiyama, Hiroyuki Awano, Mariko Yagi

J Hum Genet· April 2016

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Relationship between stature and tibial length for children with moderate-to-severe cerebral palsy.
Kenji Kihara, Yoko Kawasaki, Mariko Yagi, Satoshi Takada

Brain Dev· October 2015

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Impact of real-time three-dimensional transesophageal echocardiography on procedural success for mitral valve repair.
Mika Mori, Tsuyoshi Yoshimuta, Miho Ohira, Mariko Yagi, Kenji Sakata

J Echocardiogr· September 2015

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Identical deletion at 14q13.3 including PAX9 and NKX2-1 in siblings from mosaicism of unaffected parent.
Shin Hayashi, Mariko Yagi, Ichijiro Morisaki, Johji Inazawa

J Hum Genet· April 2015

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Phosphorothioate modification of chimeric 2´-O-methyl RNA/ethylene-bridged nucleic acid oligonucleotides increases dystrophin exon 45 skipping capability and reduces cytotoxicity.
Rusdy Ghazali Malueka, Ery Kus Dwianingsih, Mariko Yagi, Tomoko Lee, Atsushi Nishida

Kobe J Med Sci· February 2015

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Standard values for the urine HVA/VMA ratio in neonates as a screen for Menkes disease.
Tomoko Lee, Mariko Yagi, Noriko Kusunoki, Miwako Nagasaka, Tsubasa Koda

Brain Dev· January 2015

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Changes in body weight and height in survivors of Menkes disease.
Yan-Hong Gu, Hiroko Kodama, Eishin Ogawa, Yasuhiro Sato, Kahoko Motoyama, Mariko Yagi

J Trace Elem Med Biol· October 2014

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Rapid progression of neuromuscular disorder related cardiomyopathy in a young patient.
Mayuko Hayashi, Hidekazu Tanaka, Tetsushi Yamamoto, Tomoko Lee, Hiroyuki Awano, Mariko Yagi

Intern Med· August 2014

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A novel splicing silencer generated by DMD exon 45 deletion junction could explain upstream exon 44 skipping that modifies dystrophinopathy.
Ery Kus Dwianingsih, Rusdy Ghazali Malueka, Atsushi Nishida, Kyoko Itoh, Tomoko Lee, Mariko Yagi

J Hum Genet· August 2014

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[Clinical manifestations of Menkes disease vary according to patient's genotype and the initiation time of treatment with copper-histidine injections].
Mariko Yagi, Noriko Kusunoki, Tomoko Lee, Hiroyuki Awano, Hiroko Kodama

No To Hattatsu· May 2014

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Association of a vascular endothelial growth factor polymorphism with the development of bronchopulmonary dysplasia in Japanese premature newborns.
Kazumichi Fujioka, Akio Shibata, Tomoyuki Yokota, Tsubasa Koda, Miwako Nagasaka, Mariko Yagi

Sci Rep· March 2014

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Differences in carrier frequency between mothers of Duchenne and Becker muscular dystrophy patients.
Tomoko Lee, Yasuhiro Takeshima, Noriko Kusunoki, Hiroyuki Awano, Mariko Yagi

J Hum Genet· January 2014

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[Clinical manifestations of three neonates with family histories of Menkes disease].
Mariko Yagi, Noriko Kusunoki, Tomoko Lee, Hiroyuki Awano, Ichiro Morioka

No To Hattatsu· January 2014

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Childhood-onset hereditary pancreatitis with mutations in the CT gene and SPINK1 gene.
Hiroyuki Awano, Tomoko Lee, Mariko Yagi, Atsushi Masamune, Kiyoshi Kume

Pediatr Int· October 2013

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